Benign adult familial myoclonic epilepsy (BAFME): Descrizione di due famiglie ed evidenza preliminare di linkage con il cromosoma 2p11.1-q12.2

P. Striano; A. De Falco; F. Zara; A. C. Perretti; S. Striano; F. A. De Falco

Benign adult familial myoclonic epilepsy (BAFME): Descrizione di due famiglie ed evidenza preliminare di linkage con il cromosoma 2p11.1-q12.2

Translated title of the contribution: Benign adult familial myoclonic epilepsy (BAFME): Two Italian families with evidence of linkage to chromosome 2p11.1-q12

P. Striano, A. De Falco, F. Zara, A. C. Perretti, S. Striano, F. A. De Falco

Istituto "Giannina Gaslini"

Research output: Contribution to journal › Article › peer-review

Abstract

BAFME is an autosomal dominant (AD) syndrome characterized from non progressive cortical tremor (CT) resembling an essential tremor, myoclonic jerks and rare generalized tonic-clonic seizures. First described from Japanese AA, it has been mapped on chromosome 8q24. We describe two new Italian families with BAFME. Video-polygraphic study shows fine arrhythmic myoclonus at upper limbs, generalized paroxysmal activity and photosensitivity at EEG. Jerk-locked back-averaging confirms CT; typical giants SEPs and enhanced C-reflex are presents. Molecular-genetic analysis excluded a linkage to chromosome 8q24 and suggests a linkage to chromosome 2p11.1-q12.2. Our observation confirms the existence of non-Japanese BAMFE families and the genetic heterogeneity of this syndrome.

Translated title of the contribution	Benign adult familial myoclonic epilepsy (BAFME): Two Italian families with evidence of linkage to chromosome 2p11.1-q12
Original language	Italian
Pages (from-to)	59-62
Number of pages	4
Journal	Bollettino - Lega Italiana contro l'Epilessia
Issue number	118
Publication status	Published - Oct 2002

ASJC Scopus subject areas

Clinical Neurology

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Benign adult familial myoclonic epilepsy (BAFME) : Descrizione di due famiglie ed evidenza preliminare di linkage con il cromosoma 2p11.1-q12.2. / Striano, P.; De Falco, A.; Zara, F.; Perretti, A. C.; Striano, S.; De Falco, F. A.

In: Bollettino - Lega Italiana contro l'Epilessia, No. 118, 10.2002, p. 59-62.

Research output: Contribution to journal › Article › peer-review

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title = "Benign adult familial myoclonic epilepsy (BAFME): Descrizione di due famiglie ed evidenza preliminare di linkage con il cromosoma 2p11.1-q12.2",

abstract = "BAFME is an autosomal dominant (AD) syndrome characterized from non progressive cortical tremor (CT) resembling an essential tremor, myoclonic jerks and rare generalized tonic-clonic seizures. First described from Japanese AA, it has been mapped on chromosome 8q24. We describe two new Italian families with BAFME. Video-polygraphic study shows fine arrhythmic myoclonus at upper limbs, generalized paroxysmal activity and photosensitivity at EEG. Jerk-locked back-averaging confirms CT; typical giants SEPs and enhanced C-reflex are presents. Molecular-genetic analysis excluded a linkage to chromosome 8q24 and suggests a linkage to chromosome 2p11.1-q12.2. Our observation confirms the existence of non-Japanese BAMFE families and the genetic heterogeneity of this syndrome.",

keywords = "Cortical Tremor, Genetics, Myoclonic Epilepsy",

author = "P. Striano and {De Falco}, A. and F. Zara and Perretti, {A. C.} and S. Striano and {De Falco}, {F. A.}",

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T2 - Descrizione di due famiglie ed evidenza preliminare di linkage con il cromosoma 2p11.1-q12.2

AU - Striano, P.

AU - De Falco, A.

AU - Zara, F.

AU - Perretti, A. C.

AU - Striano, S.

AU - De Falco, F. A.

PY - 2002/10

Y1 - 2002/10

N2 - BAFME is an autosomal dominant (AD) syndrome characterized from non progressive cortical tremor (CT) resembling an essential tremor, myoclonic jerks and rare generalized tonic-clonic seizures. First described from Japanese AA, it has been mapped on chromosome 8q24. We describe two new Italian families with BAFME. Video-polygraphic study shows fine arrhythmic myoclonus at upper limbs, generalized paroxysmal activity and photosensitivity at EEG. Jerk-locked back-averaging confirms CT; typical giants SEPs and enhanced C-reflex are presents. Molecular-genetic analysis excluded a linkage to chromosome 8q24 and suggests a linkage to chromosome 2p11.1-q12.2. Our observation confirms the existence of non-Japanese BAMFE families and the genetic heterogeneity of this syndrome.

AB - BAFME is an autosomal dominant (AD) syndrome characterized from non progressive cortical tremor (CT) resembling an essential tremor, myoclonic jerks and rare generalized tonic-clonic seizures. First described from Japanese AA, it has been mapped on chromosome 8q24. We describe two new Italian families with BAFME. Video-polygraphic study shows fine arrhythmic myoclonus at upper limbs, generalized paroxysmal activity and photosensitivity at EEG. Jerk-locked back-averaging confirms CT; typical giants SEPs and enhanced C-reflex are presents. Molecular-genetic analysis excluded a linkage to chromosome 8q24 and suggests a linkage to chromosome 2p11.1-q12.2. Our observation confirms the existence of non-Japanese BAMFE families and the genetic heterogeneity of this syndrome.

KW - Cortical Tremor

KW - Genetics

KW - Myoclonic Epilepsy

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JO - Bollettino - Lega Italiana contro l'Epilessia

JF - Bollettino - Lega Italiana contro l'Epilessia

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Benign adult familial myoclonic epilepsy (BAFME): Descrizione di due famiglie ed evidenza preliminare di linkage con il cromosoma 2p11.1-q12.2

Abstract

ASJC Scopus subject areas

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